Photo by ali_barzegarahmadi from unsplash
ABSTRACT Clinical phenotypes of a patient with a deletion of the entire RPGR gene have not been described in the literature yet. We hereby report a new mutation in a… Click to show full abstract
ABSTRACT Clinical phenotypes of a patient with a deletion of the entire RPGR gene have not been described in the literature yet. We hereby report a new mutation in a family of X-linked retinitis pigmentosa (×lRP), showing the deletion of the entire RPGR gene. Gene therapy for inherited retinal diseases holds great promise; however, so far there has been no approved treatment of RPGR-mediated retinitis pigmentosa. The presented evidence of genotype–phenotype correlation may be useful for genetic diagnosis or even genetic treatment in the near future.
Journal Title: Ophthalmic Genetics
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!